Mild reduction of plasmalogens causes rhizomelic chondrodysplasia punctata: functional characterization of a novel mutation.
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Peroxisomes in brain development and functionWhole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1.The glycosomal alkyl-dihydroxyacetonephosphate synthase TbADS is essential for the synthesis of ether glycerophospholipids in procyclic trypanosomes.
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Mild reduction of plasmalogens causes rhizomelic chondrodysplasia punctata: functional characterization of a novel mutation.
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Mild reduction of plasmalogens ...... erization of a novel mutation.
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label
Mild reduction of plasmalogens ...... erization of a novel mutation.
@en
prefLabel
Mild reduction of plasmalogens ...... erization of a novel mutation.
@en
P2093
P2860
P356
P1476
Mild reduction of plasmalogens ...... erization of a novel mutation.
@en
P2093
Ali Rahmanifar
Hajime Niwa
Kamran Ghaedi
Masafumi Noguchi
Masanori Honsho
Ryusuke Toyama
Yoshiteru Sato
Yousef Shafeghati
Yuichi Abe
Yukio Fujiki
P2860
P2888
P304
P356
10.1038/JHG.2014.39
P577
2014-05-22T00:00:00Z